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rs730880442

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880442(A;A)
Make rs730880442(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position101397870
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs730880442
ebirs730880442
HLIrs730880442
Exacrs730880442
Varsomers730880442
Maprs730880442
PheGenIrs730880442
hapmaprs730880442
1000 genomesrs730880442
hgdprs730880442
ensemblrs730880442
gopubmedrs730880442
geneviewrs730880442
scholarrs730880442
googlers730880442
pharmgkbrs730880442
gwascentralrs730880442
openSNPrs730880442
23andMers730880442
23andMe allrs730880442
SNP Nexus

SNPshotrs730880442
SNPdbers730880442
MSV3drs730880442
GWAS Ctlgrs730880442
Max Magnitude0
ClinVar
Risk rs730880442(A;A)
Alt rs730880442(A;A)
Reference rs730880442(C;C)
Significance Pathogenic
Disease Fabry disease not provided
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease not provided
Reversed 1
HGVS NC_000023.10:g.100652858G>A; NC_000023.10:g.100652858G>T
CLNSRC
CLNACC RCV000208140.1, RCV000157884.1,